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Mario Gomes-Pereira
Mario Gomes-Pereira
Sorbonne Université, Inserm, Centre de Recherche en Myologie, Paris
Verified email at inserm.fr - Homepage
Title
Cited by
Cited by
Year
Non-ATG–initiated translation directed by microsatellite expansions
T Zu, B Gibbens, NS Doty, M Gomes-Pereira, A Huguet, MD Stone, ...
Proceedings of the National Academy of Sciences 108 (1), 260-265, 2011
9672011
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy
K Charizanis, KY Lee, R Batra, M Goodwin, C Zhang, Y Yuan, L Shiue, ...
Neuron 75 (3), 437-450, 2012
3722012
Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion
M Gomes-Pereira, MT Fortune, L Ingram, JP McAbney, DG Monckton
Human molecular genetics 13 (16), 1815-1825, 2004
2182004
CTG trinucleotide repeat “big jumps”: large expansions, small mice
M Gomes-Pereira, L Foiry, A Nicole, A Huguet, C Junien, A Munnich, ...
PLoS genetics 3 (4), e52, 2007
1322007
Molecular, physiological, and motor performance defects in DMSXL mice carrying> 1,000 CTG repeats from the human DM1 locus
A Huguet, F Medja, A Nicole, A Vignaud, C Guiraud-Dogan, A Ferry, ...
PLoS genetics 8 (11), e1003043, 2012
1262012
Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges
G Sicot, G Gourdon, M Gomes-Pereira
Human Molecular Genetics 20 (R2), R116-R123, 2011
1112011
Myotonic dystrophy mouse models: towards rational therapy development
M Gomes-Pereira, TA Cooper, G Gourdon
Trends in molecular medicine 17 (9), 506-517, 2011
1012011
Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down
M Gomes-Pereira, DG Monckton
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 598 (1 …, 2006
1012006
Analysis of unstable triplet repeats using small-pool polymerase chain reaction
M Gomes-Pereira, SI Bidichandani, DG Monckton
Trinucleotide repeat protocols, 61-76, 2004
972004
Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with …
M Gomes-Pereira, MT Fortune, DG Monckton
Human Molecular Genetics 10 (8), 845-854, 2001
972001
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour
O Hernández-Hernández, C Guiraud-Dogan, G Sicot, A Huguet, S Luilier, ...
Brain 136 (3), 957-970, 2013
902013
Chemically induced increases and decreases in the rate of expansion of a CAG· CTG triplet repeat
M Gomes‐Pereira, DG Monckton
Nucleic acids research 32 (9), 2865-2872, 2004
832004
RNA toxicity in human disease and animal models: from the uncovering of a new mechanism to the development of promising therapies
G Sicot, M Gomes-Pereira
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1832 (9 …, 2013
822013
Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24–27, 2013, Ferrere (AT), Italy
E Bugiardini, G Meola
Neuromuscular Disorders 24 (5), 445-452, 2014
512014
DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice
C Guiraud-Dogan, A Huguet, M Gomes-Pereira, E Brisson, G Bassez, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1772 (11-12 …, 2007
512007
Downregulation of the glial GLT1 glutamate transporter and purkinje cell dysfunction in a mouse model of myotonic dystrophy
G Sicot, L Servais, DM Dinca, A Leroy, C Prigogine, F Medja, SO Braz, ...
Cell reports 19 (13), 2718-2729, 2017
472017
Of mice and men: advances in the understanding of neuromuscular aspects of myotonic dystrophy
SO Braz, J Acquaire, G Gourdon, M Gomes-Pereira
Frontiers in Neurology 9, 375465, 2018
422018
Disease-associated CAG· CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion
M Gomes-Pereira, JD Hilley, F Morales, B Adam, HE James, ...
Nucleic acids research 42 (11), 7047-7056, 2014
352014
Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2–3 December 2014, Milan, Italy
G Bosco, S Diamanti, G Meola, DMCNS Group
Neuromuscular Disorders 25 (10), 813-823, 2015
212015
Synaptic protein dysregulation in myotonic dystrophy type 1: Disease neuropathogenesis beyond missplicing
O Hernández-Hernández, G Sicot, DM Dinca, A Huguet, A Nicole, L Buée, ...
Rare Diseases 1 (1), 957-70, 2013
192013
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